Canonical Allele Identifier: PA915988923
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 204380
ClinVar RCV Id: RCV000209796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Gln157Pro
CA354926
NM_001164783.2:c.470A>C